RGD:11579253 Rat Genome Database

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Variant: RGD:11579253 -  Homo sapiens

RGD ID: 11579253
RS ID: rs77527456
ClinVar ID: CV280443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 22,157,470
GRCh38 1 21,830,977
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016740.1:g.111281G>A
NC_000001.11:g.21830977C>T
NC_000001.10:g.22157470C>T
NM_005529.5:c.11671+5G>A
More... 		12/28/2018 intron variant benign|likely benign neonatal <1 / 1 000 000 AllHighlyPenetrant; Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type; Dyssegmental dwarfism Silverman-Handmaker type; Dyssegmental Dysplasia; Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPG2
Accession:XM_047419090
Location:INTRON

Gene Symbol:HSPG2
Accession:NM_005529
Location:INTRON

Gene Symbol:HSPG2
Accession:XM_017001120
Location:INTRON

Gene Symbol:HSPG2
Accession:XM_047419080
Location:INTRON

Gene Symbol:HSPG2
Accession:XM_017001121
Location:INTRON

Gene Symbol:HSPG2
Accession:NM_001291860
Location:INTRON

Gene Symbol:HSPG2
Accession:XM_011541318
Location:INTRON

Gene Symbol:HSPG2
Accession:XM_017001122
Location:INTRON

Gene Symbol:HSPG2
Accession:XM_047419091
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532   PMID:29901129  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000299061 CLINVAR
  RCV000353962 CLINVAR
  RCV000422724 CLINVAR
  RCV000958814 CLINVAR
dbSNP (RS) rs77527456 CLINVAR
MedGen C0036391 CLINVAR
  C1857100 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene HSPG2 CLINVAR
OMIM 142461 CLINVAR
  224410 CLINVAR
  255800 CLINVAR
SNOMED CT 93132001 CLINVAR